| H01269 | |
| H番号 | H01269 |
| 名称 | 先天性甲状腺機能亢進症 |
| 概要 | Congenital hyperthyroidism is a rare clinical condition, and in most cases, it is a transient disorder caused by maternal Graves disease associated with the transplacental passage of maternal thyroid-stimulating antibodies. Germline mutations of thyrotropin receptor (TSHR) gene determining a constitutive activation of the receptor were identified as a molecular cause of congenital nonautoimmune hyperthyroidism. TSHR gene mutations also cause the familial gestational hyperthyroidism, that is characterized by thyrotoxicosis and hyperemesis gravidarum. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | nt06322(H01269) TRH-TSH-TH signaling nt06531(H01269) lipid and insulin related signaling |
| 病因遺伝子 | TSHR [HSA:7253] [KO:K04249] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A02 ICD-10: E05.8 MeSH: C563786 C566384 OMIM: 603373 609152 |
| 文献 | PMID:22371259 著者 Agretti P, De Marco G, Biagioni M, Iannilli A, Marigliano M, Pinchera A, Vitti P, Cherubini V, Tonacchera M タイトル Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene. 雑誌 Eur J Pediatr 171:1133-7 (2012) DOI:10.1007/s00431-012-1702-z PMID:10427147 著者 Asteria C タイトル TSH receptor gene mutations and familial gestational hyperthyroidism. 雑誌 Eur J Endocrinol 141:93-4 (1999) DOI:10.1530/eje.0.1410093 PMID:20172477 著者 Leung AM, Pearce EN, Braverman LE タイトル Perchlorate, iodine and the thyroid. 雑誌 Best Pract Res Clin Endocrinol Metab 24:133-41 (2010) DOI:10.1016/j.beem.2009.08.009 |